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rs143367518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143367518(C;C)
Make rs143367518(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position60918364
GeneERCC8, LOC105378991
is asnp
is mentioned by
dbSNPrs143367518
dbSNP (classic)rs143367518
ClinGenrs143367518
ebirs143367518
HLIrs143367518
Exacrs143367518
Gnomadrs143367518
Varsomers143367518
LitVarrs143367518
Maprs143367518
PheGenIrs143367518
Biobankrs143367518
1000 genomesrs143367518
hgdprs143367518
ensemblrs143367518
geneviewrs143367518
scholarrs143367518
googlers143367518
pharmgkbrs143367518
gwascentralrs143367518
openSNPrs143367518
23andMers143367518
23andMe allrs143367518
SNPshotrs143367518
SNPdbers143367518
MSV3drs143367518
GWAS Ctlgrs143367518
Max Magnitude0
ClinVar
Risk rs143367518(C;C)
Alt rs143367518(C;C)
Reference Rs143367518(G;G)
Significance Probable-Pathogenic
Disease Cockayne syndrome type A
Variation info
Gene ERCC8
CLNDBN Cockayne syndrome type A
Reversed 0
HGVS NC_000005.9:g.60214191G>C
CLNSRC
CLNACC RCV000412151.1,